174 results on '"Berry, G. T."'
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2. The natural history of classic galactosemia: lessons from the GalNet registry
3. The galactosemia network (GalNet)
4. Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome-c oxidase deficiency
5. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI
6. Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency
7. 1H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis
8. Quantitative assessment of whole body galactose metabolism in galactosemic patients
9. Early prediction of phenotypic severity in Citrullinemia Type 1
10. Behavioural phenotyping of sodium-myo-inositol cotransporter heterozygous knockout mice with reduced brain inositol
11. Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia
12. Glycine andl-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency
13. Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chainl-3-hydroxyacyl-CoA dehydrogenase deficiency
14. The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency
15. Early prediction of phenotypic severity in Citrullinemia Type 1
16. The natural history of classic galactosemia: lessons from the GalNet registry
17. The natural history of classic galactosemia: Lessons from the GalNet registry
18. Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency
19. The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia
20. IP3 accumulation and/or inositol depletion: two downstream lithium’s effects that may mediate its behavioral and cellular changes
21. Multiple comparison of primary structure of the osmoregulatory Na+/myo-inositol cotransporter from bovine, human, and canine species
22. A 10-Month-Old With Intermittent Hypotonia and Paralysis
23. Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature
24. Targeted exome sequencing of suspected mitochondrial disorders
25. The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene
26. A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype
27. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
28. 1 H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis
29. Sugar nucleotide concentrations in red blood cells of patients on protein- and lactose-limited diets: effect of galactose supplementation
30. IP3 accumulation and/or inositol depletion: two downstream lithium's effects that may mediate its behavioral and cellular changes
31. Glycine andl‐carnitine therapy in 3‐methylcrotonyl‐CoA carboxylase deficiency
32. The Effect of Glucose and Galactose Toxicity on Myo-inositol Transport and Metabolism in Human Skin Fibroblasts in Culture
33. myo-inositol transport and metabolism in fetal-bovine aortic endothelial cells
34. Marked elevation of urinary 3‐hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long‐chain l ‐3‐hydroxyacyl‐CoA dehydrogenase deficiency
35. The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose‐1‐phosphate uridyltransferase deficiency
36. Abnormal Galactosylation of Complex Carbohydrates in Cultured Fibroblasts from Patients with Galactose-1-Phosphate Uridyltransferase Deficiency
37. Maturational regulation of inositol 1,4,5-trisphosphate metabolism in rabbit airway smooth muscle.
38. Proton magnetic resonance spectroscopy of brain metabolites in galactosemia.
39. Fatal hyperammonemia after orthotopic lung transplantation.
40. Murine chromosome 16 telomeric region, homologous with human chromosome 21q22, contains the osmoregulatory Na[sup +] /myo-inositol cotransporter (SLC5A3) gene.
41. 1H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis.
42. Elevated methylmalonic acid and total homocysteine levels show high prevalence of vitamin B12 deficiency after gastric surgery.
43. Abnormal Galactosylation of Complex Carbohydrates in Cultured Fibroblasts from Patients with Galactose1-Phosphate Uridyltransferase Deficiency
44. The Effect of Glucose and Galactose Toxicity on Myoinositol Transport and Metabolism in Human Skin Fibroblasts in Culture
45. Transcription of the sodium/myo-inositol cotransporter gene is regulated by multiple tonicity-responsive enhancers spread over 50 kilobase pairs in the 5'-flanking region.
46. Brief report: A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane
47. Corrigendum: Molecular and biochemical analysis of protective protein/cathepsin A mutations: Correlation with clinical severity in galactosialidosis (Human Molecular Genetics (1996) 5 (1977-1987))
48. The adult galactosemic phenotype
49. Renal handling of carnitine in secondary carnitine deficiency disorders
50. Holocarboxylase synthetase deficiency: 9‐year follow‐up of a patient on chronic biotin therapy and a review of the literature
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